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Wilson disease

Disease Export to PDF
Name:
Wilson disease
Description:
A rare genetic disorder of copper metabolism presenting with non-specific hepatic, neurologic, psychiatric or ophthalmologic manifestations due to impaired biliary copper excretion and consecutive excessive copper deposition in the body.
ORPHAcode:
905
Synonyms:
Hepatolenticular degeneration
XREF(s):
Orphanet
MeSH
MedDRA
ICD-10
OMIM
Analyte(s):
ATP7B
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Dystonia (68 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    PRKRA 93.20 0 NM_003690.4
    ARX 96.10 0 NM_139058.2
    CACNA1B 97.90 0 NM_000718.3
    KMT2B 98.40 0 NM_014727.2
    ADCY5 98.60 0 NM_183357.2
    CIZ1 98.80 0 NM_012127.2
    TH 99.10 0 NM_199292.2
    SMPD1 99.30 0 NM_000543.4
    CP 99.50 0 NM_000096.3
    PRRT2 99.60 0 NM_145239.2
    SUCLG1 99.60 0 NM_003849.3
    PLA2G6 99.70 0 NM_003560.3
    TBCD 99.70 0 NM_005993.4
    ANO3 99.70 0 NM_031418.3
    TOR1A 99.70 0 NM_000113.2
    GCDH 99.90 0 NM_000159.3
    NPC1 99.90 0 NM_000271.4
    FA2H 99.90 0 NM_024306.4
    TAF1 99.90 0 NM_004606.4
    SPR 99.90 0 NM_003124.4
    PTS 100.00 0 NM_000317.2
    DCAF17 100.00 0 NM_025000.3
    ATP7B 100.00 0 NM_000053.3
    SLC39A14 100.00 0 NM_015359.5
    C19ORF12 100.00 0 NM_001031726.3
    RELN 100.00 0 NM_005045.3
    ATM 100.00 0 NM_000051.3
    CACNA1A 100.00 0 NM_002143.2
    CYP27A1 100.00 0 NM_000784.3
    KCTD17 100.00 0 NM_001282684.1
    NKX2-1 100.00 0 NM_001079668.2
    PANK2 100.00 0 NM_153638.3
    VPS13A 100.00 0 NM_033305.2
    COL6A3 100.00 0 NM_004369.3
    ACTB 100.00 0 NM_001101.4
    ARSA 100.00 0 NM_000487.5
    ATP1A3 100.00 0 NM_152296.5
    AUH 100.00 0 NM_001698.2
    BCAP31 100.00 0 NM_001139441.1
    COASY 100.00 0 NM_025233.6
    DDC 100.00 0 NM_000790.3
    DRD2 100.00 0 NM_000795.3
    FTL 100.00 0 NM_000146.3
    GCH1 100.00 0 NM_000161.2
    GLB1 100.00 0 NM_000404.3
    GNAL 100.00 0 NM_001142339.2
    GNAO1 100.00 0 NM_020988.2
    GNB1 100.00 0 NM_002074.4
    HEXA 100.00 0 NM_000520.5
    HEXB 100.00 0 NM_000521.3
    HPRT1 100.00 0 NM_000194.2
    KCNMA1 100.00 0 NM_002247.3
    MECR 100.00 0 NM_016011.4
    MR1 100.00 0 NM_001194999.1
    NPC2 100.00 0 NM_006432.3
    PNKD 100.00 0 NM_015488.4
    SERAC1 100.00 0 NM_032861.3
    SGCE 100.00 0 NM_003919.2
    SLC18A2 100.00 0 NM_003054.4
    SLC19A3 100.00 0 NM_025243.3
    SLC2A1 100.00 0 NM_006516.2
    SLC30A10 100.00 0 NM_018713.2
    SLC6A3 100.00 0 NM_001044.4
    THAP1 100.00 0 NM_018105.2
    TIMM8A 100.00 0 NM_004085.3
    TUBB4A 100.00 0 NM_006087.3
    VAC14 100.00 0 NM_018052.4
    WDR45 100.00 0 NM_007075.3
  • Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AMPD2 99.99 1
    AP4B1 99.97 1
    ATP13A2 99.98 1
    CAMTA1 99.97 1
    COA7 100.00 1
    COQ8A 100.00 1
    COX20 99.40 1
    DARS2 99.86 1
    EIF2B3 99.95 1
    FLVCR1 99.93 1
    GDAP2 99.96 1
    GJC2 96.12 1
    HPDL 100.00 1
    IBA57 96.45 1
    KCNA2 100.00 1
    KCND3 100.00 1
    MMACHC 99.99 1
    MSTO1 98.87 1
    PUM1 99.95 1
    RNF220 99.95 1
    SLC9A1 99.86 1
    TMEM240 99.83 1
    TOE1 99.99 1
    VPS13D 99.85 1
    ALDH18A1 99.96 1
    CWF19L1 99.89 1
    ENTPD1 99.90 1
    ERLIN1 99.96 1
    NKX6-2 96.38 1
    NT5C2 99.89 1
    PHYH 99.65 1
    POLR3A 99.95 1
    ATM 99.83 1
    BSCL2 100.00 1
    CAPN1 100.00 1
    CLP1 100.00 1
    FAR1 99.83 1
    HIKESHI 99.89 1
    MRE11 99.90 1
    SCYL1 99.64 1
    SPTBN2 99.99 1
    TPP1 99.88 1
    AAAS 99.98 1
    B4GALNT1 99.95 1
    EIF2B1 99.96 1
    KCNA1 99.96 1
    KIF5A 99.93 1
    MTRFR 99.85 1
    PRICKLE1 99.97 1
    SCN8A 99.90 1
    VAMP1 99.70 1
    ATP7B 99.99 1
    ATP8A2 99.96 1
    EXOSC8 99.69 1
    FGF14 99.79 1
    KPNA3 99.96 1
    SACS 99.98 1
    SPART 99.99 1
    AP4S1 87.70 1
    ATL1 99.95 1
    DDHD1 99.98 1
    EIF2B2 99.84 1
    GALC 99.88 1
    GCH1 99.74 1
    GLRX5 98.29 1
    IRF2BPL 98.65 1
    NPC2 99.99 1
    TMEM63C 99.99 1
    VRK1 99.94 1
    ZFYVE26 99.96 1
    AP4E1 99.89 1
    CLN6 98.04 1
    HEXA 99.98 1
    NIPA1 96.26 1
    POLG 99.98 1
    SPG11 99.94 1
    SPG21 99.99 1
    TTBK2 99.88 1
    WDR73 99.99 1
    ARL6IP1 99.84 1
    CHMP1A 100.00 1
    FA2H 99.93 1
    SPG7 99.99 1
    STUB1 99.73 1
    CACNA1G 99.89 1
    COASY 99.98 1
    GFAP 99.94 1
    GOSR2 99.75 1
    KIF1C 99.99 1
    NPTX1 99.35 1
    PCYT2 97.60 1
    TSEN54 98.24 1
    VPS53 99.98 1
    WDR45B 99.96 1
    WDR81 100.00 1
    AFG3L2 99.82 1
    NPC1 99.84 1
    ATCAY 99.99 1
    ATP1A3 99.99 1
    C19ORF12 99.36 1
    CACNA1A 99.66 1
    CPT1C 99.99 1
    DNMT1 99.88 1
    EEF2 99.99 1
    KCNC3 94.29 1
    MAG 99.81 1
    OPA3 100.00 1
    PNKP 100.00 1
    PNPLA6 99.88 1
    PRKCG 99.90 1
    RTN2 99.99 1
    TUBB4A 98.81 1
    ALS2 99.91 1
    ATP5MC3 100.00 1
    CYP27A1 99.96 1
    DARS1 99.87 1
    EIF2B4 99.94 1
    HSPD1 99.95 1
    KIDINS220 99.97 1
    KIF1A 99.96 1
    MARS2 100.00 1
    PGAP1 99.64 1
    REEP1 99.99 1
    SELENOI 99.88 1
    SLC1A4 99.95 1
    SPAST 99.83 1
    ABHD12 99.11 1
    DNAJC5 99.99 1
    PDYN 99.98 1
    TGM6 100.00 1
    ARSA 100.00 1
    PLA2G6 99.98 1
    ANO10 99.92 1
    ATG7 99.98 1
    BTD 99.99 1
    CACNA2D2 99.32 1
    CLCN2 99.97 1
    CTNNB1 99.98 1
    EIF2B5 99.95 1
    ITPR1 99.94 1
    OPA1 99.87 1
    RUBCN 99.94 1
    SLC33A1 99.82 1
    TFG 99.34 1
    TSEN2 86.92 1
    AIMP1 99.90 1
    CYP2U1 97.44 1
    EXOSC9 99.86 1
    GRID2 99.98 1
    MTTP 99.96 1
    RFC1 99.44 1
    SEPSECS 99.84 1
    UCHL1 99.99 1
    CCT5 99.97 1
    FAT2 99.94 1
    HEXB 99.91 1
    PCDH12 100.00 1
    REEP2 100.00 1
    SIL1 99.99 1
    SLC1A3 99.90 1
    SLC25A46 99.93 1
    SQSTM1 100.00 1
    THG1L 99.95 1
    ABHD16A 100.00 1
    ARG1 99.98 1
    ELOVL4 99.92 1
    ELOVL5 99.95 1
    FARS2 99.98 1
    GRM1 99.87 1
    HACE1 99.91 1
    PEX7 99.87 1
    RARS2 97.34 1
    SNX14 99.73 1
    SYNE1 99.96 1
    TDP2 99.85 1
    AP4M1 100.00 1
    AP5Z1 99.94 1
    COG5 99.92 1
    IFRD1 99.96 1
    PMPCB 99.98 1
    RNF216 99.99 1
    SAMD9L 99.98 1
    VPS41 99.95 1
    CA8 99.97 1
    CYP7B1 99.87 1
    DDHD2 99.74 1
    ERLIN2 99.94 1
    GPAA1 99.88 1
    RNF170 99.94 1
    TTPA 99.97 1
    WASHC5 99.90 1
    APTX 99.92 1
    AUH 99.95 1
    EXOSC3 99.98 1
    GBA2 99.97 1
    INPP5E 99.75 1
    PMPCA 99.99 1
    SETX 99.96 1
    SPTAN1 99.97 1
    UBAP1 99.96 1
    VLDLR 99.93 1
    ABCB7 98.62 1
    ABCD1 99.78 1
    AIFM1 99.43 1
    AP1S2 97.43 1
    ATP2B3 99.82 1
    CASK 99.40 1
    L1CAM 99.90 1
    PLP1 99.93 1
  • Metabolic diseases with hepatic disorders (20 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ATP7B 100.00 1 Part of Custom Gastro-pneumo panel
    CPT1A 100.00 1 Part of Custom Gastro-pneumo panel
    CYP27A1 100.00 1 Part of Custom Gastro-pneumo panel
    DGUOK 100.00 1 Part of Custom Gastro-pneumo panel
    DHCR7 100.00 1 Part of Custom Gastro-pneumo panel
    EHHADH 100.00 1 Part of Custom Gastro-pneumo panel
    GBE1 100.00 1 Part of Custom Gastro-pneumo panel
    GNAS 0.00 1 Part of Custom Gastro-pneumo panel / only Exons 8 and 9
    GUSB 100.00 1 Part of Custom Gastro-pneumo panel
    LIPA 100.00 1 Part of Custom Gastro-pneumo panel
    MPV17 100.00 1 Part of Custom Gastro-pneumo panel
    NEU1 100.00 1 Part of Custom Gastro-pneumo panel
    NPC1 100.00 1 Part of Custom Gastro-pneumo panel
    NPC2 100.00 1 Part of Custom Gastro-pneumo panel
    POLG 100.00 1 Part of Custom Gastro-pneumo panel
    SI 100.00 1 Part of Custom Gastro-pneumo panel
    SLC25A13 100.00 1 Part of Custom Gastro-pneumo panel
    SMPD1 100.00 1 Part of Custom Gastro-pneumo panel
    TALDO1 100.00 1 Part of Custom Gastro-pneumo panel
    TRMU 100.00 1 Part of Custom Gastro-pneumo panel